Is CARD8 p.Arg283= (c.849G>T) pathogenic?

CARD8 p.Arg283= (c.849G>T) is classified Likely benign in CARD8 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-28). Absent from gnomAD v4.1.

How common is CARD8 p.Arg283= (c.849G>T) in the general population?

CARD8 p.Arg283= (c.849G>T) is absent from gnomAD v4.1 (gnomAD).

CARD8 p.Arg283=

c.849G>T · rs2514707851 · VCV2706181

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.74	GERP -2.1
Overall
CADD	5.71	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CARD8
Protein: p.Arg283=
Coding: c.849G>T
MANE Select: NM_001184900
dbSNP: rs2514707851
Type: single nucleotide variant
Location: chr19:48230624 (GRCh38)
Gene constraint: LOEUF 0.883 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 71.42 · 5 PDB
Residue 283: a UniProt-annotated variant site (in ibd30); the fiind domain; the 'zu5' region

Full CARD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CARD8 p.Arg283Gln Uncertain significance ★ same residue
CARD8 p.Arg283Trp Uncertain significance ★ same residue
CARD8 c.1035+5G>A Uncertain significance ★★ same type
CARD8 p.Ala442Pro Uncertain significance ★★ same type
CARD8 p.Ala97Val Uncertain significance ★★ same type
CARD8 p.Arg103His Uncertain significance ★★ same type
CARD8 p.Arg20Trp Uncertain significance ★★ same type
CARD8 p.Arg304Gln Uncertain significance ★★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/card8-p-arg283 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown